Canonical Allele Identifier: CA355962401

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995824A>C (hg19) ; chr4:g.1002036A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002036A>C , CM000666.2:g.1002036A>C	GRCh38
NC_000004.11:g.995824A>C , CM000666.1:g.995824A>C	GRCh37
NC_000004.10:g.985824A>C	NCBI36
NG_008103.1:g.20040A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.847A>C	ENSP00000247933.4:p.Ile283Leu
ENST00000514224.2:c.847A>C MANE Select	ENSP00000425081.2:p.Ile283Leu
ENST00000652070.1:n.903A>C
ENST00000247933.8:c.847A>C	ENSP00000247933.4:p.Ile283Leu
ENST00000514192.5:c.664A>C	ENSP00000423685.1:p.Ile222Leu
ENST00000514224.1:c.451A>C	ENSP00000425081.1:p.Ile151Leu
ENST00000514698.5:n.847A>C
NM_000203.4:c.847A>C	NP_000194.2:p.Ile283Leu
NR_110313.1:n.935A>C
XM_006713882.2:c.451A>C	XP_006713945.1:p.Ile151Leu
XM_011513459.1:c.806A>C	XP_011511761.1:p.Asp269Ala
XM_011513460.1:c.706A>C	XP_011511762.1:p.Ile236Leu
XM_011513461.1:c.640A>C	XP_011511763.1:p.Ile214Leu
XM_011513462.1:c.559A>C	XP_011511764.1:p.Ile187Leu
XM_011513463.1:c.559A>C	XP_011511765.1:p.Ile187Leu
XR_924947.1:n.916A>C
NM_000203.5:c.847A>C MANE Select	NP_000194.2:p.Ile283Leu
NM_001363576.1:c.451A>C	NP_001350505.1:p.Ile151Leu
XM_011513461.2:c.640A>C	XP_011511763.1:p.Ile214Leu
XM_017008163.1:c.-114A>C	XP_016863652.1:n.-114A>C